For Newly Diagnosed Families
You Are Not Alone on This Journey
For many, the first time they hear the words Cri du Chat or 5p- syndrome is during one of the most difficult moments—when a loved one receives the diagnosis. At the Cri du Chat Research Foundation, our mission is to help ease that fear by providing clear, supportive information not only for newly diagnosed families, but also for those navigating the years ahead as their children grow and change. And to let you know that there is now hope for treatment development that could help change the trajectory of your loved one.
Whether you're just starting out or have been on this journey for a while, we're here for you. If you can't find the answers you need, please don't hesitate to reach out to us at info@criduchatresearch.org—we're always here to help.
5p- syndrome isn't just a diagnosis. It's a community—of families like yours, walking this path together, offering strength, hope, and support every step of the way.
First Steps…
What is 5p- syndrome? It is important for you to know your child's genotype (where their deletion breakpoint is, do they have duplications etc?). Knowledge is power.
Provide your doctors with the ICD-10 Code
Connect with CDCRF - register with CDCRF to receive the latest news, keep the 5p- syndrome Census up to date, and learn about potential studies and future clinical trials. Gain a support network of others with similar experiences that will help make your life easier.
Please have your doctors fill out the form with the names and locations of providers you have seen who have experience with 5p- syndrome so we can develop a map of the locations of these doctors as a resource for all 5p- syndrome families. See medical considerations for providers below.
When you're ready for more information…
Advice to those with recent diagnosis: https://www.youtube.com/watch?v=sAd1Oez3qXQ
From Simons Searchlight, an CDCRF Partner – A Family Guide: Navigating Life After a Rare Genetic Diagnosis
Potential Medical Considerations for Providers
While 5p- syndrome can affect impacted individuals in different ways, you may want to consult with your child's doctors about the following physical ailments that are more commonly seen in 5p- individuals:
Ear, nose, throat: Swallowing difficulties/dysphagia, laryngomalacia, laryngeal cleft, tracheomalacia, deafness, auditory processing issues
Eyes: Strabismus, blindness or low vision, nystagmus, cortical visual impairment
Gastrointestinal: Reflux, constipation
Heart: Holes in heart/Atrial Septal Defect/Ventricular Septal Defect, heart murmur
Lungs: Chronic pneumonia, asthma
Mouth: Cleft lip, cleft palate, small jaw, grinding of teeth, teeth misalignment, lip and tongue ties, obstructive sleep apnea
Musculoskeletal: Low muscle tone, scoliosis, pronation of feet
Neurology: Seizures, insomnia
Other Comorbid Diagnosis: Primary Ciliary Dyskinesia (PCD) & 5p- syndrome have a genetic connection. PCD should be ruled out by a pulmonologist that can do formal testing (nasal brushing) to diagnose the disorder.
For Families
Early Intervention is Key!
Most 5p- individuals experience developmental delay, but early intervention therapies can help to mitigate the delay and allow your child to achieve a fuller potential.
Depending on how your child is affected by the syndrome, you may be interested in the following types of therapies:
Physical therapy
Occupational therapy
Feeding therapy
Speech therapy
Vision therapy
Contact the agency that oversees the child development early intervention program in your state for further information and an evaluation.
You Are Not Alone
Receiving a 5p- syndrome diagnosis for your child can feel overwhelming and emotional. It's completely normal to face uncertainty, fear, and many questions in those early days.
But you're not alone.
There is a strong and growing community of families, resources, and support ready to walk this journey with you. Whether you're seeking guidance on care, staying informed about promising research, or simply needing to connect with others who truly understand—support is here. Together, we share hope for a future where innovative treatments are possible, there is hope and no family feels isolated.
Planning for Your Financial Future
The Arc Financial Planning Video Series
EnABLEing Financial Security for your loved one with 5p- syndrome – Setting up a 529 ABLE Savings Plan!
Long Term Planning for your loved one with 5p- syndrome. Patients: It's never too soon.
Additional Resources
Epilepsy Management:
Autism
Sensory Processing Disorder
Apraxia
Rare Diseases
General Support:
Once Upon a Gene Podcast